ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6513G>T (p.Val2171=) (rs206076)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163332 SCV000213866 likely benign Hereditary cancer-predisposing syndrome 2014-09-22 criteria provided, single submitter clinical testing
Color RCV000163332 SCV000683789 likely benign Hereditary cancer-predisposing syndrome 2016-10-01 criteria provided, single submitter clinical testing
Counsyl RCV000495019 SCV000786526 likely benign Breast-ovarian cancer, familial 2 2018-05-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168590 SCV000592060 benign not specified 2015-08-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724515 SCV000225154 uncertain significance not provided 2017-02-13 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495019 SCV000579088 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
GeneDx RCV000168590 SCV000210629 benign not specified 2014-09-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000195987 SCV000253026 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000724515 SCV000889100 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing

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